Tyrosinase immunohistochemistry can be employed for the diagnosis of atypical teratoid/rhabdoid tumours of the tyrosinase subgroup (ATRT-TYR)

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F20%3A10395652" target="_blank" >RIV/00216208:11130/20:10395652 - isvavai.cz</a>

Alternative codes found

RIV/00064203:_____/20:10395652

Result on the web

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=ay-4Xmwbg0" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=ay-4Xmwbg0</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1111/nan.12560" target="_blank" >10.1111/nan.12560</a>

Result language

angličtina

Original language name

Tyrosinase immunohistochemistry can be employed for the diagnosis of atypical teratoid/rhabdoid tumours of the tyrosinase subgroup (ATRT-TYR)

Original language description

Atypical teratoid/rhabdoid tumour (ATRT) is a malignant brain tumour mainly occurring in young children. Mutations of chromatin remodelling complex member SMARCB1/INI1 or (rarely) SMARCA4/BRG1 are the sole recurrent genetic lesions. On an epigenetic level, however, ATRT is a heterogeneous disease comprised of three different molecular subgroups (ATRT-TYR, ATRT-SHH and ATRT-MYC). These subgroups are characterized by distinct DNA methylome profiles, enhancer landscapes and subgroup-specific transcriptional networks. Because molecular subgroups not only differ with regard to tumour location and age of onset, but may also show differences in overall survival, molecular subgrouping of ATRT is expected to influence clinical management. This holds especially true for the identification of ATRT-TYR, a subgroup named after the enzyme tyrosinase, which is highly expressed in this subgroup. ATRT-TYR tumours are further characterized by overexpression of melanosomal marker genes (e.g. TYR, TYRP and MITF) and OTX2, young age of onset, infratentorial location and relatively favourable outcome. DNA methylation profiling is a robust and reliable tool for the molecular classification of brain tumours 9 and has been successfully employed for subgrouping of ATRT. However, availability and/or legal regulations preclude first-line use of DNA methylation profiling at some institutions. We have previously shown that tyrosinase is overexpressed at the mRNA and protein level in ATRT-TYR, but the sensitivity and specificity of tyrosinase immunohistochemistry for the diagnosis of ATRT-TYR have not yet been determined. Here, we show in a large ATRT series with known molecular subgroup status that positive tyrosinase staining is highly specific for the diagnosis of ATRT-TYR.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30204 - Oncology

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2020

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Neuropathology and Applied Neurobiology

ISSN

0305-1846

e-ISSN

—

Volume of the periodical

46

Issue of the periodical within the volume

2

Country of publishing house

GB - UNITED KINGDOM

Number of pages

4

Pages from-to

186-189

UT code for WoS article

000476070700001

EID of the result in the Scopus database

2-s2.0-85069903175